Aims: Late-infantile CLN2 disease is caused by a deficiency of the lysosomal enzyme tripeptidyl peptidase 1 and is characterized by rapid psychomotor decline and epilepsy. Although the disease is presently incurable, early diagnosis is desirable for family planning. In our patients, diagnosis was frequently delayed by 2 or more years after the onset of striking symptoms (epilepsy and ataxia). We were looking for possible forerunners of the overt manifestation of the disease.

Case Study: Krabbe disease (globoid cell leukodystrophy, Omim 245200) is a severe genetic degenerative brain disorder caused by the deficiency of the lysosomal enzyme β-galactocerebrosidase. The classical infantile form of the disease starts during the first year of life with dramatic loss of psychomotor functions and leads to early death. Therapy of this form with hematopoietic stem cell transplantation (HSCT) has been advocated for many years, but in spite of treatment early during the presymptomatic phase of the disease, has remained controversial. In contrast, a limited number of patients with late-onset forms of Krabbe disease receiving HSCT therapy have been reported; some of them suggesting HSCT as an effective treatment option.

Case Study: We investigated a 24-year-old woman because of a slowly progressive neurological disease and white matter abnormalities detected on MRI. She had been a child with normal psychomotor development until the age of 9 years, when progressive myopia was recognized. Toward the end of her high school years, cognitive deterioration and abnormalities of her speech and gait were noted, and she became frustrated and depressed. At the age of 23 years, she had a first grand mal seizure. On examination, the leading symptoms were difficulties with free walking, slow speech, one-sided cataract, and mild peripheral neuropathy. MRI of her brain suggested a primary hypomyelination, eventually shown to be because of a compound heterozygosity for mutations in the POLR3B gene, a finding typical of 4H syndrome (Omim #614381).

Introduction: During recent years, the number of diseases classified as neurodegeneration with brain iron accumulation (NBIA) has steadily increased. Although the underlying mechanisms linking the iron deposition to the neurodegeneration and clinical symptoms remain unclear, recent therapeutic trials have aimed at a reduction of the cerebral iron content. We report a novel method, quantitative susceptibility mapping (QSM), which was used to monitor treatment effects of deferiprone in a patient with mitochondrial membrane protein-associated neurodegeneration (MPAN).

Aims: Progressive myoclonus epilepsy is an important differential diagnosis in pharmacoresistant epilepsy. We discuss a case of Lafora disease in a video documentation to demonstrate that this rare epileptic syndrome might be diagnosed even in youth as long as the characteristic case history and clinical symptoms are correctly understood.

Among childhood leukodystrophies, Vanishing White Matter Disease (VWMD) has recently been recognized as one of the most frequent types. The age at manifestation is usually between two and six years, rarely at a younger age. Minor head trauma and fever are thought to be triggering factors. We report a boy in whom a very severe course of VWMD started at the end of the first year of life.

A male infant, who had appeared normal during the first months of life, slowly developed a neurological disorder characterized by loss of motor activity, starring spells, microcephaly, and severe global developmental retardation. Macrocythemia was noted. Blood homocysteine was markedly elevated, methionine, B12 and folic acid levels were normal. Further studies included a complementation analysis of fibroblasts (Brian Fowler, Basel, Switzerland) leaded to the diagnosis of a remethylation defect at the level of methionine synthase caused by a cblG defect. Treatment with vitamin B12 (as hydroxycobalamine) lead to a rapid improvement of the motor disorder clinically. We report the initial MRI findings at his age of 9 months and the MRI and MR spectroscopic follow up after three months of treatment. The initial MRI showed severe brain atrophy. A second MRI study revealed a growth of the brain volume. Proton MR spectroscopy revealed mild reduction of the neurometabolite myo-Inositol and Cholin. No sign of demyelination was found. Conclusion: the case shows that with proper treatment the condition of a patient suffering from cobalamin G disorder improved on a clinical and neuroradiological level.

Objective: Peripheral neuropathy with optic atrophy is a clinically and genetically heterogeneous group of disorders classified as hereditary motor and sensory neuropathy (HMSN) Type VI. We report on a case which shows not only peripheral but also central myelinisation defects.

Journal Article The syndrome of primary adrenal hypoplasia, glycerokinase deficiency and myopathy: morphological and cytochemical findings Get access H Schäfer, H Schäfer Institut für Pathologie und Kinderklinik, Universität Hamburg Search for other works by this author on: Oxford Academic Google Scholar G Beckenkamp, G Beckenkamp Institut für Pathologie und Kinderklinik, Universität Hamburg Search for other works by this author on: Oxford Academic Google Scholar A Kohlschütter A Kohlschütter Institut für Pathologie und Kinderklinik, Universität Hamburg Search for other works by this author on: Oxford Academic Google Scholar Acta Endocrinologica (Norway), Volume 110, Issue 1_Supplement_a, Apr 1979, Pages S37–S38, https://doi.org/10.1530/acta.0.109S037-a Published: 01 April 1985

view Abstract Citations (11) References (33) Co-Reads Similar Papers Volume Content Graphics Metrics Export Citation NASA/ADS Local Group progenitors: Lyman Alpha bright? Dayal, Pratika ; Libeskind, Noam I. Abstract We present a novel approach of identifying the Milky Way (MW) and Andromeda (M31) progenitors that could be visible as Lyman Alpha emitters (LAEs) at z∼ 6: we couple a snapshot from the Constrained Local UniversE Simulations (CLUES) project, which successfully reproduces the MW and M31 galaxies situated in their correct environment, to a LAE model. Exploring intergalactic medium (IGM) ionization states ranging from an almost neutral to a fully ionized one, we find that including (excluding) the effects of clustered sources the first Local Group progenitor appears as a LAE for a neutral hydrogen fraction ? (?). This number increases to five progenitors each of the MW and M31 being visible as LAEs for ?; the contribution from clustered sources is crucial in making many of the progenitors visible in the Lyα for all the ionization states considered. The stellar mass of the Local Group LAEs ranges between 107.2 and 108 M⊙, the dust mass is between 104.6 and 105.1 M⊙ and the colour excess E(B-V) = 0.03-0.048. We find that the number density of these LAEs is higher than that of general field LAEs (observed in cosmological volumes) by about two (one) orders of magnitude for ? (0.4). Detections of such high LAE number densities at z∼ 6 would be a clear signature of an overdense region that could evolve and resemble the Local Group volume at z= 0. Publication: Monthly Notices of the Royal Astronomical Society Pub Date: January 2012 DOI: 10.1111/j.1745-3933.2011.01166.x arXiv: arXiv:1107.5721 Bibcode: 2012MNRAS.419L...9D Keywords: galaxy: evolution; galaxies: high redshift; intergalactic medium; cosmology: theory; Astrophysics - Cosmology and Nongalactic Astrophysics E-Print: Accepted for publication in MNRAS Letters full text sources Publisher | arXiv | data products SIMBAD (2) NED (1)